XRCC4

X-ray repair cross complementing 4
OMIM: 194363, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green XRCC4 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism

Green XRCC4 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
  • Expert list
Phenotypes
  • MPD
  • microcephalic primordial dwarfism
  • Short stature, microcephaly, and endocrine dysfunction, 616541

Green XRCC4 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.203

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction 616541

Green XRCC4 in Fetal anomalies


Version 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMORDIAL DWARFISM

Green XRCC4 in DDG2P


Version 1.148

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMORDIAL DWARFISM 615272

Red XRCC4 in Growth failure in early childhood


Version 1.3

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism

Green XRCC4 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • PRIMORDIAL DWARFISM

Red XRCC4 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.2

review Not set
Sources
  • Expert list
Phenotypes
  • Short stature, microcephaly, and endocrine dysfunction 616541